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Miroslava Hancarova

Showing results (1-10 of 30) with videos related to

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BMC Medical Education|October 26, 2019
Teaching a difficult topic using a problem-based concept resembling a computer game: development and evaluation of an e-learning application for medical molecular geneticsKamila Prochazkova, Petr Novotny, Miroslava Hancarova, et al.
American Journal of Medical Genetics. Part A|March 16, 2013
A patient with de novo 0.45 Mb deletion of 2p16.1: the role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndromeMiroslava Hancarova, Martina Simandlova, Jana Drabova, et al.
American Journal of Medical Genetics. Part A|April 27, 2018
Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeresMiroslava Hancarova, Marcela Malikova, Michaela Kotrova, et al.
BMC Medical Genetics|June 4, 2017
Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case reportDarina Prchalova, Marketa Havlovicova, Katalin Sterbova, et al.
American Journal of Medical Genetics. Part A|August 2, 2019
Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndromeMiroslava Hancarova, Marketa Havlovicova, Martina Putzova, et al.
Molecular Cytogenetics|November 21, 2014
A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplicationsJana Drabova, Marie Trkova, Miroslava Hancarova, et al.
Gene|December 26, 2012
Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15Miroslava Hancarova, Sarka Vejvalkova, Marie Trkova, et al.
Fetal Diagnosis and Therapy|May 28, 2008
Cell-free fetal DNA in maternal plasma during physiological single male pregnancies: methodology issues and kineticsAles Horinek, Marie Korabecna, Ales Panczak, et al.
American Journal of Medical Genetics. Part A|March 5, 2015
Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8Jana Drabova, Eva Seemanova, Miroslava Hancarova, et al.
Neuropsychiatric Disease and Treatment|October 4, 2016
Expanded <i>DMPK</i> repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded <i>DMPK</i> repeats at screening of 330 children with autismZuzana Musova, Miroslava Hancarova, Marketa Havlovicova, et al.
Pageof 3

Showing results (1-10 of 30) with videos related to

Sort By:
Pageof 3
BMC Medical Education|October 26, 2019
Teaching a difficult topic using a problem-based concept resembling a computer game: development and evaluation of an e-learning application for medical molecular geneticsKamila Prochazkova, Petr Novotny, Miroslava Hancarova, et al.
American Journal of Medical Genetics. Part A|March 16, 2013
A patient with de novo 0.45 Mb deletion of 2p16.1: the role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndromeMiroslava Hancarova, Martina Simandlova, Jana Drabova, et al.
American Journal of Medical Genetics. Part A|April 27, 2018
Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeresMiroslava Hancarova, Marcela Malikova, Michaela Kotrova, et al.
BMC Medical Genetics|June 4, 2017
Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case reportDarina Prchalova, Marketa Havlovicova, Katalin Sterbova, et al.
American Journal of Medical Genetics. Part A|August 2, 2019
Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndromeMiroslava Hancarova, Marketa Havlovicova, Martina Putzova, et al.
Molecular Cytogenetics|November 21, 2014
A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplicationsJana Drabova, Marie Trkova, Miroslava Hancarova, et al.
Gene|December 26, 2012
Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15Miroslava Hancarova, Sarka Vejvalkova, Marie Trkova, et al.
Fetal Diagnosis and Therapy|May 28, 2008
Cell-free fetal DNA in maternal plasma during physiological single male pregnancies: methodology issues and kineticsAles Horinek, Marie Korabecna, Ales Panczak, et al.
American Journal of Medical Genetics. Part A|March 5, 2015
Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8Jana Drabova, Eva Seemanova, Miroslava Hancarova, et al.
Neuropsychiatric Disease and Treatment|October 4, 2016
Expanded <i>DMPK</i> repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded <i>DMPK</i> repeats at screening of 330 children with autismZuzana Musova, Miroslava Hancarova, Marketa Havlovicova, et al.
Pageof 3